rs80358245
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80358245(C;T) |
| Make rs80358245(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50080387 |
| Gene | MLC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358245 |
| dbSNP (classic) | rs80358245 |
| ClinGen | rs80358245 |
| ebi | rs80358245 |
| HLI | rs80358245 |
| Exac | rs80358245 |
| Gnomad | rs80358245 |
| Varsome | rs80358245 |
| LitVar | rs80358245 |
| Map | rs80358245 |
| PheGenI | rs80358245 |
| Biobank | rs80358245 |
| 1000 genomes | rs80358245 |
| hgdp | rs80358245 |
| ensembl | rs80358245 |
| geneview | rs80358245 |
| scholar | rs80358245 |
| rs80358245 | |
| pharmgkb | rs80358245 |
| gwascentral | rs80358245 |
| openSNP | rs80358245 |
| 23andMe | rs80358245 |
| SNPshot | rs80358245 |
| SNPdbe | rs80358245 |
| MSV3d | rs80358245 |
| GWAS Ctlg | rs80358245 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358245(T;T) |
| Alt | rs80358245(T;T) |
| Reference | Rs80358245(C;C) |
| Significance | Pathogenic |
| Disease | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Variation | info |
| Gene | MLC1 |
| CLNDBN | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Reversed | 1 |
| HGVS | NC_000022.10:g.50518816G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004979.4, |
[PMID 11254442
] Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
[PMID 14615938] A common mutation and a novel mutation in Japanese patients with van der Knaap disease.
[PMID 16470554] Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
